Section of Hematology/Oncology, Baylor St Luke Medical Center, Houston, TX, 77030, USA.
Department of Molecular and Human Genetics, Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
J Med Case Rep. 2021 Mar 1;15(1):98. doi: 10.1186/s13256-020-02623-2.
Hemophagocytic lymphohistiocytosis (HLH) is characterized by hyperinflammation and life-threatening cytopenias. Survival is poor, and management is pivotal on rapid identification of the disease. HLH is associated with hematologic malignancies, however correlation with myelodysplastic syndromes (MDS) is exceedingly unusual. Although minimizing overwhelming hyperinflammation by treating hemophagocytosis are central for HLH outcome, there is urgent necessity to identify potential initiating mechanisms that could assist in therapy design.
Here, we describe an elderly African American patient who developed rapid onset of cytopenias and coagulopathy associated with hepatic and bone marrow hemophagocytosis. We analyze four additional similar cases to isolate clinical, laboratory and cytogenetic findings expected in patients exhibiting concurrent HLH and MDS. HLH linked with MDS retains common HLH features associated with systemic hyperinflammation such as fever, hypotension, hepatosplenomegaly, hyperferritinemia, coagulopathy and rapidly evolving cytopenias. Typical MDS chromosomic abnormality such as trisomy 8 was frequently observed in our studied cases.
Our case describes difficulties while managing HLH in MDS patients. Diagnosis should be based on identifying HLH appropriate criteria and if possible karyotypic abnormalities normally observed in MDS.
噬血细胞性淋巴组织细胞增生症（HLH）的特征是炎症过度活跃和危及生命的血细胞减少症。存活率低，管理的关键是快速识别疾病。HLH 与血液系统恶性肿瘤有关，但与骨髓增生异常综合征（MDS）相关极为罕见。尽管通过治疗噬血细胞作用来减轻过度炎症反应对于 HLH 的结果至关重要，但迫切需要确定潜在的起始机制，以协助治疗设计。
在这里，我们描述了一位老年非裔美国患者，他迅速出现血细胞减少症和凝血功能障碍，伴有肝脏和骨髓噬血细胞现象。我们分析了另外四个类似病例，以分离出在同时发生 HLH 和 MDS 的患者中预期出现的临床、实验室和细胞遗传学发现。与 MDS 相关的 HLH 保留了与全身炎症过度活跃相关的常见 HLH 特征，如发热、低血压、肝脾肿大、高铁蛋白血症、凝血功能障碍和迅速进展的血细胞减少症。在我们研究的病例中，经常观察到典型的 MDS 染色体异常，如三体 8。
我们的病例描述了在 MDS 患者中管理 HLH 时遇到的困难。诊断应基于确定 HLH 的适当标准，如果可能，还应基于 MDS 中通常观察到的核型异常。
